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<p>Down syndrome (DS) is associated with craniofacial abnormalities, muscular hypotonia, and upper airway obstruction, factors that increase the risk of obstructive sleep apnea (OSA). Despite the high likelihood of sleep-disordered breathing in this population, diagnostic access remains limited, especially in low-resource settings. This study aimed to determine the prevalence and severity of sleep-disordered breathing in adolescents and adults with DS. This cross-sectional study included adolescents and adults with DS who underwent home type IV polygraphy (Biologix) and completed validated questionnaires assessing OSA risk and excessive daytime sleepiness. Anthropometric data were collected, and correlations with respiratory parameters were analyzed. OSA was highly prevalent, affecting 93% of participants. Mild to moderate OSA predominated (80%). Respiratory events were frequently accompanied by oxygen desaturation, with marked nocturnal hypoxemia (mean minimum SpO₂: 82.4%). Sleep was inefficient and fragmented, with efficiency below 75% in most individuals. Neck circumference showed a significant correlation with nocturnal hypoxemia, whereas age and body weight did not. Subjective sleep questionnaires underestimated OSA severity compared with polygraphy. Sleep-disordered breathing appears to be highly prevalent and physiologically relevant in individuals with DS. Home type IV polygraphy proved feasible, well-accepted, and clinically informative for this population. These findings highlight the importance of accessible diagnostic strategies to improve early detection and management of OSA in individuals with DS.</p>

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Prevalence and severity of sleep-disordered breathing in individuals with Down syndrome using a portable home-based diagnostic device: a pilot study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月20日

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  • Miriam Yumi Matsui Yamaguchi,
  • Carla Nóbrega Silva Nunes,
  • Wilson Rodrigues de Freitas Júnior,
  • Luciana Prado Maia,
  • Rodrigo A. Carvalho Andraus,
  • Carlos Hassel Mendes Silva,
  • Ângela Silveira Guerra Silva,
  • Stéfani Vaz Marianni,
  • Deise A. A. Pires Oliveira,
  • Rodrigo Franco Oliveira,
  • Claudia Santos Oliveira,
  • Giuseppe Insalaco,
  • Mônica Fernandes Gomes,
  • Orlando Aguirre Guedes,
  • Lilian Chrystiane Giannasi,
  • Luís Vicente Franco de Oliveira

摘要

Down syndrome (DS) is associated with craniofacial abnormalities, muscular hypotonia, and upper airway obstruction, factors that increase the risk of obstructive sleep apnea (OSA). Despite the high likelihood of sleep-disordered breathing in this population, diagnostic access remains limited, especially in low-resource settings. This study aimed to determine the prevalence and severity of sleep-disordered breathing in adolescents and adults with DS. This cross-sectional study included adolescents and adults with DS who underwent home type IV polygraphy (Biologix) and completed validated questionnaires assessing OSA risk and excessive daytime sleepiness. Anthropometric data were collected, and correlations with respiratory parameters were analyzed. OSA was highly prevalent, affecting 93% of participants. Mild to moderate OSA predominated (80%). Respiratory events were frequently accompanied by oxygen desaturation, with marked nocturnal hypoxemia (mean minimum SpO₂: 82.4%). Sleep was inefficient and fragmented, with efficiency below 75% in most individuals. Neck circumference showed a significant correlation with nocturnal hypoxemia, whereas age and body weight did not. Subjective sleep questionnaires underestimated OSA severity compared with polygraphy. Sleep-disordered breathing appears to be highly prevalent and physiologically relevant in individuals with DS. Home type IV polygraphy proved feasible, well-accepted, and clinically informative for this population. These findings highlight the importance of accessible diagnostic strategies to improve early detection and management of OSA in individuals with DS.